| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2073 |
Name | ERCC5 |
Synonymous | COFS3|ERCM2|UVDR|XPG|XPGC;excision repair cross-complementing rodent repair deficiency, complementation group 5;ERCC5;excision repair cross-complementing rodent repair deficiency, complementation group 5 |
Definition | DNA excision repair protein ERCC-5|DNA repair protein complementing XP-G cells|XPG-complementing protein|xeroderma pigmentosum, complementation group G |
Position | 13q33 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ERCC5 | ||
PCGP somatic mutation [Top] | ||
There is no record for ERCC5 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1369C>A; p.H457N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2777G>T; p.G926V; |
liver | carcinoma; hepatocellular_carcinoma |
c.1507C>T; p.L503L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1414C>T; p.P472S; |
skin; arm | malignant_melanoma |
c.290T>C; p.L97S; |
NS | malignant_melanoma |
c.290T>C; p.L97S; |
NS | malignant_melanoma |
c.1241C>T; p.P414L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2700A>C; p.Q900H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1057C>A; p.L353M; |
pancreas | carcinoma |
c.2678C>T; p.S893L; |
parathyroid | adenoma |
c.2206T>G; p.L736V; |
endometrium | carcinoma; serous_carcinoma |
c.1861C>G; p.Q621E; 13:102313361-102313361 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3256G>A; p.G1086R; |
oesophagus | carcinoma; adenocarcinoma |
c.2125G>A; p.D709N; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.604C>A; p.H202N; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2330G>A; p.R777H; |
lung | carcinoma; mucoepidermoid_carcinoma |
c.2441G>A; p.W814*; |
liver | carcinoma |
c.3005A>G; p.Q1002R; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1500G>T; p.R500R; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1057C>A; p.L353M; |
pancreas | carcinoma; ductal_carcinoma |
c.1026A>G; p.P342P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.666G>A; p.M222I; |
lung | carcinoma; adenocarcinoma |
c.1579C>T; p.P527S; |
skin; extremity | malignant_melanoma |
c.2478T>A; p.F826L; |
skin; trunk | malignant_melanoma |
c.1033T>A; p.L345I; |
breast | carcinoma |
c.1475C>G; p.S492C; |
breast | carcinoma |
c.409G>T; p.V137F; |
liver | carcinoma |
c.265-1G>T; p.?; |
liver | carcinoma |
c.3527T>C; p.L1176P; |
lung | carcinoma; adenocarcinoma |
c.3495C>T; p.A1165A; 13:102326188-102326188 |
ovary | carcinoma; serous_carcinoma |
c.205C>T; p.R69*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2563G>T; p.A855S; |
lung | carcinoma; squamous_cell_carcinoma |
c.233G>T; p.G78V; 13:102302613-102302613 |
ovary | carcinoma; serous_carcinoma |
c.557T>C; p.I186T; 13:102308654-102308654 |
ovary | carcinoma; serous_carcinoma |
c.2827G>T; p.D943Y; 13:102322697-102322697 |
ovary | carcinoma; serous_carcinoma |
c.3233C>T; p.S1078F; |
ovary | carcinoma; serous_carcinoma |
c.2490G>T; p.K830N; |
lung | carcinoma; squamous_cell_carcinoma |
c.1120G>A; p.A374T; |
lung | carcinoma; squamous_cell_carcinoma |
c.2575G>T; p.G859*; |
lung | carcinoma; adenocarcinoma |
c.1051G>T; p.A351S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1283G>T; p.S428I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2083G>T; p.A695S; |
lung | carcinoma; adenocarcinoma |
c.3166C>T; p.Q1056*; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.803A>G; p.D268G; |
lung | carcinoma; squamous_cell_carcinoma |
c.2612G>T; p.C871F; |
lung | carcinoma; adenocarcinoma |
c.1537G>A; p.A513T; |
lung | carcinoma; squamous_cell_carcinoma |
c.3387G>T; p.S1129S; |
lung | carcinoma; squamous_cell_carcinoma |
c.3457G>A; p.D1153N; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.1191T>A; p.D397E; |
lung | carcinoma; adenocarcinoma |
c.1120G>T; p.A374S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.591C>T; p.P197P; |
breast | carcinoma |
c.1195G>A; p.E399K; |
breast | carcinoma |
c.1836G>T; p.E612D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2491T>C; p.F831L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2828A>G; p.D943G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.864T>G; p.H288Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2957C>T; p.A986V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2832G>A; p.S944S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.232G>A; p.G78R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2743delA; p.K917fs*65; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2275C>T; p.R759W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2049G>A; p.E683E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3405A>G; p.E1135E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2178T>C; p.H726H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.211C>T; p.R71C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.628G>T; p.E210*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.557T>C; p.I186T; 13:102308654-102308654 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.537C>A; p.F179L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2866G>A; p.D956N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2055G>C; p.L685L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1301T>C; p.V434A; |
breast | carcinoma |
c.2326C>A; p.L776M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2186A>G; p.Q729R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2832G>A; p.S944S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1935G>A; p.S645S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3184A>G; p.N1062D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3253G>A; p.G1085S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1432C>T; p.L478F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2676C>A; p.F892L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1155C>A; p.P385P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2701A>C; p.K901Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2953G>A; p.D985N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2977A>C; p.I993L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1045C>T; p.Q349*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2455C>T; p.R819W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3035G>A; p.S1012N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.67G>A; p.E23K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1642G>A; p.E548K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3428C>T; p.A1143V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1375G>A; p.A459T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1861C>T; p.Q621*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2743delA; p.K917fs*65; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.556A>G; p.I186V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3458A>G; p.D1153G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1551G>A; p.P517P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2913G>A; p.T971T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1341G>A; p.A447A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.424G>C; p.D142H; |
breast | carcinoma |
c.180T>G; p.H60Q; |
breast | carcinoma |
c.2593G>A; p.G865R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2261A>T; p.K754I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3537G>A; p.A1179A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2127C>T; p.D709D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1322C>T; p.P441L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.368T>C; p.F123S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1259G>A; p.R420H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3338T>C; p.V1113A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.211C>T; p.R71C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.507G>T; p.M169I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1258C>A; p.R420S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1713G>A; p.P571P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1669G>T; p.D557Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1861C>T; p.Q621*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.232G>A; p.G78R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1222G>A; p.D408N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.556A>T; p.I186L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1075G>A; p.E359K; |
cervix | carcinoma; squamous_cell_carcinoma |
c.947G>A; p.G316D; |
prostate | carcinoma; adenocarcinoma |
c.2828A>G; p.D943G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.556A>G; p.I186V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3207C>A; p.S1069R; |
cervix | carcinoma; squamous_cell_carcinoma |
c.2743delA; p.K917fs*65; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1825A>G; p.K609E; |
prostate | carcinoma |
c.2665C>T; p.L889F; |
skin | malignant_melanoma |
c.3420T>A; p.N1140K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1672T>C; p.S558P; |
stomach | adenocarcinoma |
c.2397G>C; p.L799L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |